Zusammenfassung
Es werden Pathologie, Genetik und Klinik der häufigsten Formen der Nicht-Alzheimer-Demenzen dargestellt, nämlich die Lewy-Körperchen-Demenzen (Demenz mit Lewy-Körpern, Parkinson-Krankheit mit Demenz) und die verschiedenen Formen der frontotemporalen Lobärdegeneration, die auf Tau-Pathologie (Pick-Krankheit, kortikobasale Degeneration, progressive supranukleäre Blickparese, Silberkornkrankheit, FTDP-17T), TDP-43-Pathologie oder FUS-Pathologie beruhen.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Literatur
Baker M, Mackenzie IR, Pickering-Brown SM et al. (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442: 916–919
Ballatore C, Lee VM, Trojanowski JQ (2007) Tau-mediated neurodegeneration in Alzheimer’s disease and related disorders. Nat Rev Neurosci 8: 663–672
Bateman A, Bennett HP (2009) The granulin gene family: from cancer to dementia. Bioessays 31: 1245–1254
Bigio EH, Lipton AM, Yen SH et al. (2001) Frontal lobe dementia with novel tauopathy: sporadic multiple system tauopathy with dementia. J Neuropathol Exp Neurol 60: 328–341
Bird T, Knopman D, VanSwieten J et al. (2003) Epidemiology and genetics of frontotemporal dementia/Pick’s disease. Ann Neurol 54 (Suppl 5): S29–31
Braak H, Braak E (1989) Cortical and subcortical argyrophilic grains characterize a disease associated with adult onset dementia. Neuropathol Appl Neurobiol 15: 13–26
Buee L, Delacourte A (1999) Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick’s disease. Brain Pathol 9: 681–693
Buratti E, Baralle FE (2008) Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci 13: 867–878
Cairns NJ, Grossman M, Arnold SE et al. (2004) Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology 63: 1376–1384
Cairns NJ, Neumann M, Bigio EH et al. (2007) TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol 171: 227–240
Cruts M, Gijselinck I, van der Zee J et al. (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442: 920–924
Dickson DW, Bergeron C, Chin SS et al. (2002) Office of Rare Diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol 61: 935–946
Forman MS, Zhukareva V, Bergeron C, Chin SS, Grossman M, Clark C, Lee VM, Trojanowski JQ (2002) Signature tau neuropathology in gray and white matter of corticobasal degeneration. Am J Pathol 160: 2045–2053
Forman MS, Farmer J, Johnson JK et al. (2006) Frontotemporal dementia: clinicopathological correlations. Ann Neurol 59: 952–962
Foster NL, Wilhelmsen KC, Sima AAF, Jones MZ, D’Amato CJ, Gilman S, Conference P (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 41: 706–715
Geser F, Martinez-Lage M, Robinson J et al. (2009) Clinical and pathological continuum of multisystem TDP-43 proteinopathies. Arch Neurol 66: 180–189
Goedert M (2005) Tau gene mutations and their effects. Mov Disord 20 (Suppl 12): S45–52
Hatanpaa KJ, Bigio EH, Cairns NJ et al. (2008) TAR DNA-Binding Protein 43 Immunohistochemistry Reveals Extensive Neuritic Pathology in FTLD-U: A Midwest-Southwest Consortium for FTLD Study. J Neuropathol Exp Neurol 67: 271–279
Holm IE, Englund E, Mackenzie IR, Johannsen P , Isaacs AM (2007) A Reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. J Neuropathol Exp Neurol 66: 884–891
Hutton M, Lendon CL, Rizzu P et al. (1998) Association of missense and 5’-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702–705
Ishihara K, Araki S, Ihori N, Shiota J, Kawamura M, Yoshida M, Hashizume Y, Nakano I (2005) Argyrophilic grain disease presenting with frontotemporal dementia: a neuropsychological and pathological study of an autopsied case with presenile onset. Neuropathology 25: 165–170
Jellinger KA, Attems J (2007) Neurofibrillary tangle-predominant dementia: comparison with classical Alzheimer disease. Acta Neuropathol 113: 107–117
Kimonis VE, Fulchiero E, Vesa J, Watts G (2008) VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. Biochim Biophys Acta 1782: 744–748
Knopman DS, Mastri AR, Frey WH, Sung JH , Rustan T (1990) Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurology 40: 251–256
Kovacs GG, Majtenyi K, Spina S et al. (2008) White matter tauopathy with globular glial inclusions: a distinct sporadic frontotemporal lobar degeneration. J Neuropathol Exp Neurol 67: 963–975
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL et al. (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323: 1205–1208
Lagier-Tourenne C, Polymenidou M, Cleveland DW (2010) TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet 19: R46–64
Lippa CF, Duda JE, Grossman M et al. (2007) DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology 68: 812–819
Litvan I, Agid Y, Calne D et al. (1996) Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): Report of the NINDS-SPSP International Workshop. Neurology 47: 1–9
Mackenzie IR, Baborie A, Pickering-Brown S, Plessis DD, Jaros E, Perry RH, Neary D, Snowden JS, Mann DM (2006) Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol (Berl) 112: 539–549
Mackenzie IR, Bigio EH, Ince PG et al. (2007) Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 61: 427–434
Mackenzie IR, Foti D, Woulfe J, Hurwitz TA (2008) Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions. Brain 131: 1282–1293
Mackenzie IR, Neumann M, Bigio EH et al. (2009) Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol 117: 15–18
Mackenzie IR, Neumann M, Bigio EH et al. (2010) Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol 119: 1–4
Mackenzie IR, Rademakers R, Neumann M (2010) TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol 9: 995–1007
McKeith I, Galasko D, Kosaka K et al. (1996) Consensus guidelines for the clinical and pathological diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology 47: 1113–1124
McKeith IG, Dickson DW, Lowe J et al. (2005) Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 65: 1863–1872
Morita M, Al-Chalabi A, Andersen PM et al. (2006) A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 66: 839–844
Mott RT, Dickson DW, Trojanowski JQ et al. (2005) Neuropathologic, biochemical, and molecular characterization of the frontotemporal dementias. J Neuropathol Exp Neurol 64: 420–428
Munoz DG, Neumann M, Kusaka H, Yokota O, Ishihara K, Terada S, Kuroda S, Mackenzie IR (2009) FUS pathology in basophilic inclusion body disease. Acta Neuropathol 118: 617–627
Murray R, Neumann M, Forman MS et al. (2007) Cognitive and motor assessment in autopsy-proven corticobasal degeneration. Neurology 68: 1274–1283
Neary D, Snowden JS, Gustafson L et al. (1998) Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51: 1546–1554
Neumann M, Sampathu DM, Kwong LK et al. (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314: 130–133
Neumann M, Kwong LK, Truax AC et al. (2007) TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions. J Neuropathol Exp Neurol 66: 177–183
Neumann M, Mackenzie IR, Cairns NJ et al. (2007) TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol 66: 152–157
Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA, Mackenzie IR (2009) A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 132: 2922–2931
Neumann M, Roeber S, Kretzschmar HA, Rademakers R, Baker M, Mackenzie IR (2009) Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol 118: 605–616
Neumann M, Tolnay M, Mackenzie IR (2009) The molecular basis of frontotemporal dementia. Expert Rev Mol Med 11: e23
Pick A (1892) Ueber die Beziehungen der senilen Hirnatrophie zur Aphasie. Prager Med Wochenschr 17: 165–167
Poorkaj P, Bird TD, Wijsman E et al. (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43: 815–825
Rademakers R, Hutton M (2007) The genetics of frontotemporal lobar degeneration. Curr Neurol Neurosci Rep 7: 434–442
Rebeiz JJ, Kolodny EH, Richardson EP Jr (1967) Corticodentatonigral degeneration with neuronal achromasia: a progressive disorder of late adult life. Trans Am Neurol Assoc 92: 23–26
Roeber S, Mackenzie IR, Kretzschmar HA, Neumann M (2008) TDP-43-negative FTLD-U is a significant new clinico-pathological subtype of FTLD. Acta Neuropathol 116: 147–157
Sampathu DM, Neumann M, Kwong LK et al. (2006) Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol 169: 1343–1352
Sha S, Hou C, Viskontas IV, Miller BL (2006) Are frontotemporal lobar degeneration, progressive supranuclear palsy and corticobasal degeneration distinct diseases? Nat Clin Pract Neurol 2: 658–665
Spillantini MG, Schmidt ML, Lee VMY, Trojanowski JQ, Jakes R, Goedert M (1997) α-Synuclein in Lewy bodies. Nature 388: 839–840
Sreedharan J, Blair IP, Tripathi VB et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668–1672
Steele J, Richardson J, Olszewski J (1964) Progressive supranuclear palsy; a heterogeneous degeneration involving the brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuclear dystonia and dementia. Archives of Neurology 10: 333–359
Tolnay M, Clavaguera F (2004) Argyrophilic grain disease: a late-onset dementia with distinctive features among tauopathies. Neuropathology 24: 269–283
Tsuchiya K, Mitani K, Arai T, Yamada S, Komiya T, Esaki Y, Haga C, Yamanouchi H, Ikeda K (2001) Argyrophilic grain disease mimicking temporal Pick‘s disease: a clinical, radiological, and pathological study of an autopsy case with a clinical course of 15 years. Acta Neuropathol 102: 195–199
Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, Strong M, Rouleau GA (2007) Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol 64: 240–245
van Swieten J, Spillantini MG (2007) Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 17: 63–73
Vance C, Al-Chalabi A, Ruddy D et al. (2006) Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 129: 868–876
Vance C, Rogelj B, Hortobagyi T et al. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208–1211
Zhukareva V, Mann D, Pickering-Brown S et al. (2002) Sporadic Pick‘s disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter. Ann Neurol 51: 730–739
Zhukareva V, Shah K, Uryu K et al. (2002) Biochemical analysis of tau proteins in argyrophilic grain disease, Alzheimer‘s disease, and Pick‘s disease : a comparative study. Am J Pathol 161: 1135–1141
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Neumann, M. (2012). Nicht-Alzheimer-Demenzen. In: Klöppel, G., Kreipe, H., Remmele, W., Paulus, W., Schröder, J. (eds) Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02324-8_8
Download citation
DOI: https://doi.org/10.1007/978-3-642-02324-8_8
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-02323-1
Online ISBN: 978-3-642-02324-8
eBook Packages: Medicine (German Language)